Linked Data
dbSNP Id:
rs765220809
ExAC:
7:100230911 G / GGAC
gnomAD v2:
7-100230911-G-GGAC
gnomAD v4:
7-100633288-G-GGAC
MyVariant Identifiers:
chr7:g.100230911_100230912insGAC (hg19)
chr7:g.100633288_100633289insGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633288_100633289insGAC , CM000669.2:g.100633288_100633289insGAC | GRCh38 |
| NC_000007.13:g.100230911_100230912insGAC , CM000669.1:g.100230911_100230912insGAC | GRCh37 |
| NC_000007.12:g.100068847_100068848insGAC | NCBI36 |
| NG_007989.1:g.13262_13263insGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.666_667insGTC MANE Select | ENSP00000223051.3:p.Glu222_Gln223insVal | |
| ENST00000223051.7:c.666_667insGTC | ENSP00000223051.3:p.Glu222_Gln223insVal | |
| ENST00000431692.5:c.666_667insGTC | ENSP00000413905.1:p.Glu222_Gln223insVal | |
| ENST00000462107.1:c.666_667insGTC | ENSP00000420525.1:p.Glu222_Gln223insVal | |
| ENST00000465294.5:n.671_672insGTC | ||
| ENST00000473374.5:n.116_117insGTC | ||
| ENST00000473571.1:n.120_121insGTC | ||
| ENST00000475011.1:n.195_196insGTC | ||
| ENST00000476304.5:n.287_288insGTC | ||
| NM_001206855.1:c.153_154insGTC | NP_001193784.1:p.Glu51_Gln52insVal | |
| NM_003227.3:c.666_667insGTC | NP_003218.2:p.Glu222_Gln223insVal | |
| XM_005250553.3:c.666_667insGTC | XP_005250610.1:p.Glu222_Gln223insVal | |
| XM_005250554.3:c.666_667insGTC | XP_005250611.1:p.Glu222_Gln223insVal | |
| NM_001206855.2:c.153_154insGTC | NP_001193784.1:p.Glu51_Gln52insVal | |
| XM_005250553.4:c.666_667insGTC | XP_005250610.1:p.Glu222_Gln223insVal | |
| XM_017012573.1:c.666_667insGTC | XP_016868062.1:p.Glu222_Gln223insVal | |
| NM_003227.4:c.666_667insGTC MANE Select | NP_003218.2:p.Glu222_Gln223insVal | |
| NM_001206855.3:c.153_154insGTC | NP_001193784.1:p.Glu51_Gln52insVal |